Varaico: Literature-Extracted Genetic Variants

XDH

424 papers

RefSeq Summary

Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism of purines. The encoded protein has been identified as a moonlighting protein bas...

Pfam Domains

Fer2aa 8–78UCSC2Fe-2S iron-sulfur cluster binding domain

Fer2_2aa 87–161UCSC[2Fe-2S] binding domain

FAD_binding_5aa 228–412UCSCFAD binding domain in molybdopterin dehydrogenase

CO_deh_flav_Caa 419–523UCSCCO dehydrogenase flavoprotein C-terminal domain

Ald_Xan_dh_Caa 588–694UCSCAldehyde oxidase and xanthine dehydrogenase, a/b hammerhead domain

MoCoBD_1aa 699–947UCSCMolybdopterin cofactor-binding domain

Gene Aliases

HGNC Name

xanthine dehydrogenase

HGNC Alias Symbols

XOR; XO; XDH/XO

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000379.4

p.G733Splc

c.2197+201C>G

Surrounding Variants

1 paper

NM_000379.4

p.G733Splc

c.2197+211C>T

1 paper

NM_000379.4

p.G733Splc

c.2197+282T>C

2 papers

NM_000379.4

p.G733Splc

c.2197+68G>A

4 papers

NM_000379.4

p.G733Splc

c.2197+42G>C

1 paper

NM_000379.4

p.G733Splc

c.2197+12C>G

6 papers

NM_000379.4

p.K722*

c.2164A>T

1 paper

NM_000379.4

p.L720L

c.2158C>T

1 paper

NM_000379.4

p.G718R

c.2152G>C

1 paper

NM_000379.4

p.G718R

c.2152G>A

1 paper

NM_000379.4

p.S707F

c.2120C>T

1 paper

NM_000379.4

p.S707T

c.2119T>A

18 papers

NM_000379.4

p.I703V

c.2107A>G